Linked Data
ClinVar Variation Id:
348872
dbSNP Id:
rs77404139
gnomAD v2:
4-52889018-T-C
gnomAD v3:
4-52022852-T-C
gnomAD v4:
4-52022852-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52022852T>C , CM000666.2:g.52022852T>C | GRCh38 |
| NC_000004.11:g.52889018T>C , CM000666.1:g.52889018T>C | GRCh37 |
| NC_000004.10:g.52583775T>C | NCBI36 |
| NG_008891.1:g.20468A>G , LRG_204:g.20468A>G | |
| NG_053164.1:g.2460A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.*1105A>G MANE Select | ENSP00000370839.6:n.*1105A>G | |
| ENST00000381431.9:c.*1105A>G | ENSP00000370839.5:n.*1105A>G | |
| NM_000232.4:c.*1105A>G , LRG_204t1:c.*1105A>G | NP_000223.1:n.*1105A>G | |
| XM_006714049.2:c.*1105A>G | XP_006714112.1:n.*1105A>G | |
| XM_011534403.1:c.*1105A>G | XP_011532705.1:n.*1105A>G | |
| XM_011534404.1:c.*1105A>G | XP_011532706.1:n.*1105A>G | |
| NM_000232.5:c.*1105A>G MANE Select | NP_000223.1:n.*1105A>G |